ClinVar for MedGen (Select 462645) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578376	NM_017649.5(CNNM2):c.2384C>A (p.Ser795Ter)	CNNM2 (S773* +1 more)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 6	GPathogenic
Select item 2578375	NM_017649.5(CNNM2):c.1310G>A (p.Gly437Glu)	CNNM2 (G437E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GPathogenic
Select item 2578374	NM_017649.5(CNNM2):c.1291G>A (p.Glu431Lys)	CNNM2 (E431K)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GPathogenic
Select item 2578373	NM_017649.5(CNNM2):c.1003G>A (p.Asp335Asn)	CNNM2 (D335N)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GLikely pathogenic
Select item 1672716	NM_017649.5(CNNM2):c.2233+17C>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 1627843	NM_017649.5(CNNM2):c.1765+11T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1487188	NM_017649.5(CNNM2):c.237G>A (p.Leu79=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1430577	NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu)	CNNM2 (G16E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +2 more	GUncertain significance
Select item 1375331	NM_017649.5(CNNM2):c.118A>G (p.Ile40Val)	CNNM2 (I40V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1299852	NM_017649.5(CNNM2):c.804G>T (p.Leu268=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1217370	NM_017649.5(CNNM2):c.2418+20T>C	CNNM2	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign
Select item 1098410	NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)	CNNM2 (R602*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 6 +2 more	GLikely pathogenic
Select item 931077	NM_017649.5(CNNM2):c.1621+21dup	CNNM2	Duplication (intron variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 930941	NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser)	CNNM2 (A709S)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 916391	NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser)	CNNM2 (N757S +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GUncertain significance
Select item 879851	NM_017649.5(CNNM2):c.2385G>T (p.Ser795=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 879850	NM_017649.5(CNNM2):c.2355G>C (p.Ser785=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 879849	NM_017649.5(CNNM2):c.2190C>T (p.Thr730=)	CNNM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 879848	NM_017649.5(CNNM2):c.2004C>T (p.Asn668=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 879489	NM_017649.5(CNNM2):c.1263C>G (p.Thr421=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 879488	NM_017649.5(CNNM2):c.1128C>T (p.Ile376=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GBenign
Select item 878079	NM_017649.5(CNNM2):c.*606G>C	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 878078	NM_017649.5(CNNM2):c.*543A>G	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 878077	NM_017649.5(CNNM2):c.*519G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 878076	NM_017649.5(CNNM2):c.*310C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 878025	NM_017649.5(CNNM2):c.849C>T (p.Asp283=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 878024	NM_017649.5(CNNM2):c.621C>T (p.Ser207=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 878023	NM_017649.5(CNNM2):c.411C>G (p.Gly137=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GBenign
Select item 878022	NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser)	CNNM2 (T99S)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 877910	NM_017649.5(CNNM2):c.*159G>C	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 877909	NM_017649.5(CNNM2):c.*34C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 877908	NM_017649.5(CNNM2):c.2430G>T (p.Gln810His)	CNNM2 (Q788H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877907	NM_017649.5(CNNM2):c.2400G>A (p.Ser800=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 757526	NM_017649.5(CNNM2):c.90C>T (p.Arg30=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +1 more	GBenign
Select item 746924	NM_017649.5(CNNM2):c.360C>T (p.Phe120=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign/Likely benign
Select item 746700	NM_017649.5(CNNM2):c.2322A>G (p.Thr774=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GLikely benign
Select item 740699	NM_017649.5(CNNM2):c.903C>T (p.Tyr301=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 732511	NM_017649.5(CNNM2):c.2073+8G>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GLikely benign
Select item 722958	NM_017649.5(CNNM2):c.2565C>T (p.Asn855=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 392723	NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu)	CNNM2 (P773L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 298669	NM_017649.5(CNNM2):c.*1246G>C	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298668	NM_017649.5(CNNM2):c.*1162G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298667	NM_017649.5(CNNM2):c.*904G>C	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298666	NM_017649.5(CNNM2):c.*891G>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298665	NM_017649.5(CNNM2):c.*879G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298663	NM_017649.5(CNNM2):c.*834C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298662	NM_017649.5(CNNM2):c.*811A>G	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298661	NM_017649.5(CNNM2):c.*794G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298660	NM_017649.5(CNNM2):c.*690C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298659	NM_017649.5(CNNM2):c.*686T>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298658	NM_017649.5(CNNM2):c.*619A>G	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298657	NM_017649.5(CNNM2):c.*528G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298656	NM_017649.5(CNNM2):c.*455C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298655	NM_017649.5(CNNM2):c.*311G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298654	NM_017649.5(CNNM2):c.*205G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298653	NM_017649.5(CNNM2):c.*53G>A	CNNM2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298652	NM_017649.5(CNNM2):c.*52C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 298651	NM_017649.5(CNNM2):c.*3C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298650	NM_017649.5(CNNM2):c.2544C>T (p.Asp848=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +1 more	GBenign
Select item 298649	NM_017649.5(CNNM2):c.2310C>T (p.Ala770=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298648	NM_017649.5(CNNM2):c.2188A>G (p.Thr730Ala)	CNNM2 (T730A)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 6	GUncertain significance
Select item 298647	NM_017649.5(CNNM2):c.2073+14T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 298646	NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val)	CNNM2 (A671V)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +2 more	GUncertain significance
Select item 298645	NM_017649.5(CNNM2):c.1842T>C (p.Ser614=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign
Select item 298644	NM_017649.5(CNNM2):c.1764C>T (p.Tyr588=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 298643	NM_017649.5(CNNM2):c.1622-6C>T	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 298642	NM_017649.5(CNNM2):c.1515C>T (p.Pro505=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 298641	NM_017649.5(CNNM2):c.1134C>T (p.Leu378=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign
Select item 298640	NM_017649.5(CNNM2):c.801C>T (p.Cys267=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298639	NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)	CNNM2 (A202T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +3 more	GBenign/Likely benign
Select item 298638	NM_017649.5(CNNM2):c.564C>T (p.Ser188=)	CNNM2	Single nucleotide variant (synonymous variant)	CNNM2-related condition +2 more	GBenign/Likely benign
Select item 298637	NM_017649.5(CNNM2):c.342G>T (p.Thr114=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign/Likely benign
Select item 298636	NM_017649.5(CNNM2):c.210G>A (p.Glu70=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298635	NM_017649.5(CNNM2):c.113G>A (p.Arg38Gln)	CNNM2 (R38Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 298634	NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu)	CNNM2 (Q17E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298633	NM_017649.5(CNNM2):c.-65G>A	CNNM2	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 298632	NM_017649.5(CNNM2):c.-110A>T	CNNM2	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 30684	NM_017649.5(CNNM2):c.1703C>T (p.Thr568Ile)	CNNM2 (T568I)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GPathogenic
Select item 30683	NM_017649.5(CNNM2):c.117del (p.Ile40fs)	CNNM2 (I40fs)	Deletion (frameshift variant)	Renal hypomagnesemia 6	GPathogenic

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Items: 79